4436[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 153532	GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3	LOC129933708, LOC129933709 +104 more	Copy number gain	See cases	GUncertain significance
Select item 148501	GRCh38/hg38 2p21(chr2:46592232-47488001)x3	BCYRN1, CALM2 +53 more	Copy number gain	See cases	GLikely benign
Select item 144457	GRCh38/hg38 2p21-16.3(chr2:46806218-50565538)x1	BCYRN1, CALM2 +94 more	Copy number loss	See cases	GPathogenic
Select item 150869	GRCh38/hg38 2p21-16.3(chr2:47089663-48479681)x3	BCYRN1, CALM2 +60 more	Copy number gain	See cases	GLikely pathogenic
Select item 58843	GRCh38/hg38 2p21-16.3(chr2:47206008-47600171)x3	BCYRN1, EPCAM +21 more	Copy number gain	See cases	GUncertain significance
Select item 665649	NC_000002.12:g.(?_47369496)_(47416439_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 662277	NC_000002.12:g.(?_47369496)_(47482959_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 656825	NC_000002.12:g.(?_47369496)_(47429951_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 654100	NC_000002.11:g.(?_47596635)_(48034009_?)dup	EPCAM, KCNK12 +19 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 652374	NC_000002.12:g.(?_47369496)_(47442436_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 647963	NC_000002.12:g.(?_47369496)_(47426138_?)del	MIR559, MSH2 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 643708	NC_000002.12:g.(?_47369496)_(47471072_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 641555	NC_000002.12:g.(?_47369496)_(47410382_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 584342	NC_000002.12:g.(?_47369496)_(47445667_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 584018	NC_000002.11:g.(?_47596635)_(47630551_?)dup	EPCAM, LOC129933695 +2 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 583722	NC_000002.11:g.(?_47596635)_(47710098_?)dup	EPCAM, LOC129933695 +2 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 583591	NC_000002.12:g.(?_47369500)_(47429947_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455033	NC_000002.12:g.(?_47369500)_(47445663_?)del	LOC129933695, MIR559 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455032	NC_000002.12:g.(?_47369500)_(47416435_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 661723	NC_000002.12:g.(?_47373453)_(47416439_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455035	Single allele	EPCAM, LOC129933695 +2 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 646389	NC_000002.12:g.(?_47377004)_(47429951_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 525973	NC_000002.12:g.(?_47377008)_(47410378_?)del	EPCAM, LOC129933695 +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 583658	NC_000002.11:g.(?_47606898)_(47710098_?)dup	EPCAM, LOC129933695 +1 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 525965	NC_000002.12:g.(?_47385160)_(47403408_?)del	EPCAM, LOC129933695 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 455039	NC_000002.12:g.(?_47385160)_(47482955_?)del	EPCAM, LOC129933695 +1 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 90492	NM_000251.1(MSH2):c.-4729_367-353del	LOC129933695, MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90486	NM_000251.1(MSH2):c.-1753_645+922del	LOC129933695, MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 2613699	NM_000251.1(MSH2):c.-68-1376_95del1539	LOC129933695, MSH2	Deletion (genic upstream transcript variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 937627	NM_000251.2(MSH2):c.-1444_96del	LOC129933695, MSH2	Deletion (genic upstream transcript variant)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 90497	NM_000251.1(MSH2):c.-956_1077-5607del	LOC129933695, MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90496	NM_000251.1(MSH2):c.-823_1076+5984del	LOC129933695, MSH2	Deletion	Lynch syndrome	GPathogenic
Select item 90490	NM_000251.1(MSH2):c.-433T>G	MSH2	Single nucleotide variant	Lynch syndrome	GBenign
Select item 1197741	NC_000002.12:g.47402787C>T	MSH2	Single nucleotide variant	not provided	GLikely benign
Select item 1728808	NM_000251.1(MSH2):c.-320_-310del11	LOC129933695, MSH2	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1728170	NM_000251.1(MSH2):c.-314dupG	LOC129933695, MSH2	Duplication	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 141026	NM_000251.1(MSH2):c.-318A>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1728524	NM_000251.1(MSH2):c.-317G>A	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1728517	NM_000251.1(MSH2):c.-317delG	LOC129933695, MSH2	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1728420	NM_000251.1(MSH2):c.-316G>C	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 187758	NM_000251.1(MSH2):c.-316G>A	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1728291	NM_000251.1(MSH2):c.-315G>C	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1728177	NM_000251.1(MSH2):c.-314G>A	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 187160	NM_000251.1(MSH2):c.-314G>C	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1728063	NM_000251.1(MSH2):c.-313C>G	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 232798	NM_000251.1(MSH2):c.-313C>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1727953	NM_000251.1(MSH2):c.-312T>C	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 183734	NM_000251.1(MSH2):c.-310C>G	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1727553	NM_000251.1(MSH2):c.-309A>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076122	NM_000251.1(MSH2):c.-308A>C	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1727429	NM_000251.1(MSH2):c.-308A>G	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 231220	NM_000251.1(MSH2):c.-308A>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1727358	NM_000251.1(MSH2):c.-307G>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799346	NM_000251.1(MSH2):c.-305C>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799261	NM_000251.1(MSH2):c.-304T>G	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799024	NM_000251.1(MSH2):c.-302G>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799021	NM_000251.1(MSH2):c.-302G>C	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1799017	NM_000251.1(MSH2):c.-302G>A	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798894	NM_000251.1(MSH2):c.-301C>T	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798778	NM_000251.1(MSH2):c.-300A>C	LOC129933695, MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798617	NM_000251.1(MSH2):c.-299G>A	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 186140	NM_000251.1(MSH2):c.-299G>C	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798273	NM_000251.1(MSH2):c.-296G>T	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 229728	NM_000251.1(MSH2):c.-296G>A	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798040	NM_000251.1(MSH2):c.-294G>A	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1797907	NM_000251.1(MSH2):c.-293T>G	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1797784	NM_000251.1(MSH2):c.-292A>T	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1797783	NM_000251.1(MSH2):c.-292A>G	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1797664	NM_000251.1(MSH2):c.-291A>C	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1797047	NM_000251.1(MSH2):c.-287_-286delCA	MSH2	Microsatellite	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1797394	NM_000251.1(MSH2):c.-289C>T	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 232387	NM_000251.1(MSH2):c.-289C>A	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 186034	NM_000251.1(MSH2):c.-286A>T	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1796937	NM_000251.1(MSH2):c.-285G>A	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1796213	NM_000251.1(MSH2):c.-280_-278delGAG	MSH2	Deletion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1796434	NM_000251.1(MSH2):c.-281G>T	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1796432	NM_000251.1(MSH2):c.-281G>C	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 230119	NM_000251.1(MSH2):c.-281G>A	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1796321	NM_000251.1(MSH2):c.-280G>C	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1796124	NM_000251.1(MSH2):c.-279A>G	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 233933	NM_000251.1(MSH2):c.-279A>C	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 232430	NM_000251.1(MSH2):c.-277C>T	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1795659	NM_000251.1(MSH2):c.-275C>G	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1795557	NM_000251.1(MSH2):c.-274T>G	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1795186	NM_000251.1(MSH2):c.-271T>C	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1795183	NM_000251.1(MSH2):c.-271T>A	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1795030	NM_000251.1(MSH2):c.-270A>G	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1794873	NM_000251.1(MSH2):c.-269A>C	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1794789	NM_000251.1(MSH2):c.-268G>T	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1794783	NM_000251.1(MSH2):c.-268G>A	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1794672	NM_000251.1(MSH2):c.-267G>A	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1794529	NM_000251.1(MSH2):c.-266A>C	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 231817	NM_000251.1(MSH2):c.-265T>A	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 231194	NM_000251.1(MSH2):c.-263C>G	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1794036	NM_000251.1(MSH2):c.-262G>A	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 234116	NM_000251.1(MSH2):c.-262G>C	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 230210	NM_000251.1(MSH2):c.-262G>T	MSH2	Single nucleotide variant	Hereditary cancer-predisposing syndrome	GUncertain significance

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